PB2066: SYSTEMIC LUPUS ERYTHEMATOSUS-INDUCED AMEGAKARYOCYTIC THROMBOCYTOPENIA AND SUBSEQUENT APLASTIC ANEMIA
Authors: Gyuhee Seong, Charles J Kim
Journal: HemaSphere (2023)

Topic: 12. Bone marrow failure syndromes incl. PNH - Clinical Background: Thrombocytopenia can be the first manifestation of systemic lupus erythematosus (SLE) in up to 16% of patients. Acquired Amegakaryocytic Thrombocytopenia (AAMT) is a rare disorder with severely reduced megakaryocytes in the bone marrow. AAMT is often associated with SLE via an autoantibody against the thrombopoietin receptor. AAMT can progress to aplastic anemia (AA) with pancytopenia with hypocellular marrow. Overall mortality was 15% in SLE-induced AA. Herein presents the first case report of SLE-induced AAMT and subsequent AA. Aims: Discuss manifestations and treatment of rare hematologic complications of SLE Methods: Retrospective electronic medical record review Results: A 27-year-old African American male with no significant history presents with petechiae and bruises in his extremities for two weeks. He had a family history of pernicious anemia in mother and sister with pityriasis lichenoides. Labs showed WBC 3.41K/uL, hemoglobin 10.9g/dL, platelets <2K/uL without any evidence of hemolysis, hepatitis, HIV, or CMV/EBV infection. Peripheral smear was normal except for decreased platelets. For presumptive immune thrombocytopenia, intravenous immunoglobulins (IVIG), steroids, and platelet transfusion were initiated. This patient was diagnosed with SLE based on diagnostic criteria (positive ANA/dsDNA, low C4, thrombocytopenia). Bone marrow biopsy demonstrated hypocellular marrow (30-40%), no evidence of leukemia/lymphoma, and severely decreased megakaryocytes, suggesting SLE-induced AAMT via autoimmune-mediated destruction of megakaryocytes. Immunosuppression was initiated with mycophenolate mofetil, plasmapheresis, hydroxychloroquine, one dose of rituximab, and eltrombopag, but he was still requiring platelet transfusion without adequate response. Repeat marrow revealed reduced cellularity to 10-20%. NGS from bone marrow and karyotypes were normal. The patient was discharged with mycophenolate, methotrexate, steroids, and eltrombopag. In 2 months, initial amegakaryocytic marrow progressed to very severe aplastic anemia secondary to lupus, with all cell lines severely suppressed, despite aggressive immunosuppression. The patient required platelet and pRBC transfusions weekly. The patient was diagnosed with AA 5 months ago and is awaiting allogeneic hematopoietic cell transplantation (HCT). Summary/Conclusion: Amegakaryocytic thrombocytopenia and aplastic anemia are extremely rare complications of SLE. Allogeneic HCT can be offered to patients with severe AA who are healthy and younger than 40 years old. There is no randomized controlled trial to establish the standard of care of SLE-induced AA. One case report is available where SLE-induced AA was successfully treated with allogeneic HCT. A 22-year-old African American woman with SLE-induced AA with cutaneous and renal involvement did not respond to immunosuppression with steroids, hydroxychloroquine, mycophenolate mofetil, cyclosporine, rabbit/horse antithymocyte globulin, and allogeneic HCT after 6 months of diagnosis achieved hematological response. Autologous HCT has yet to be explored in SLE-induced AA. No histological or clinical features distinguish primary AA from SLE-induced AA. There is a need for more case reports to recognize SLE-induced AA and establish treatment options, including allogeneic HCT. Keywords: Systemic lupus erythematosus, Aplastic anemia